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. 2023 Mar 23;14:1108440. doi: 10.3389/fgene.2023.1108440

TABLE 3.

SNV changes of 10 ASD patients.

ID Sex Gene Nucleotide change Amino acid change Type of mutation Origin Clinical diagnosis
ASD0046 female ASH1L c.8595delT p.Gln2866fs Frameshift de novo Intellectual developmental disorder, autosomal dominant 52
ASD0061 male EP300 c.4242T>G p.Tyr1414* Non-sense de novo Menke-Hennekam syndrome 2
ASD0063 female SCN2A c.4550_4551del p.Ala1517fs Frameshift de novo Developmental and epileptic encephalopathy 11
ASD0134 male ADNP c.2156_2157insA p.Tyr719* Non-sense de novo Helsmoortel-van der Aa syndrome
ASD0148 female SHANK3 c.4728_4740del p.Leu1577fs Frameshift de novo Phelan-McDermid syndrome
ASD0162 male NF1 c.7395-2A>T - Splicing de novo Neurofibromatosis, type 1
ASD0219 female PRKD1 c.41_71del p.Leu14fs Frameshift de novo Congenital heart defects and ectodermal dysplasia
ASD0221 male SCN2A c.605 + 1G>A - Splicing de novo Episodic ataxia type 9
ASD0294 male PTEN c.546dupA p.Leu182fs Frameshift de novo Macrocephaly/autism syndrome
ASD0326 male SCN2A c.1570C>T p.Arg524* Non-sense de novo Episodic ataxia type 9